Rossi, D., Palmio, J., Evila, A., Galli, L., Barone, V., Caldwell, T. A., Policke, R. A., Aldkheil, E., Berndsen, C. E., Wright, N. T., Malfatti, E., Brochier, G., Pierantozzi, E., Jordanova, A., Guergueltcheva, V., Romero, N. B., Hackman, P., Eymard, B., Udd, B., Sorrentino, V. :
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
PLoS ONE, 2017 ; 12 (10) : e0186642
Publications (1181)
Marty, B., Coppa, B., Carlier, P. G. :
Fast, precise, and accurate myocardial T1 mapping using a radial MOLLI sequence with FLASH readout Magn Reson Med, 2017 ; (SP) :
Fast, precise, and accurate myocardial T1 mapping using a radial MOLLI sequence with FLASH readout Magn Reson Med, 2017 ; (SP) :
Coutelier, M., Coarelli, G., Monin, M. L., Konop, J., Davoine, C. S., Tesson, C., Valter, R., Anheim, M., Behin, A., Castelnovo, G., Charles, P., David, A., Ewenczyk, C., Fradin, M., Goizet, C., Hannequin, D., Labauge, P., Riant, F., Sarda, P., Sznajer, Y., Tison, F., Ullmann, U., Van Maldergem, L., Mochel, F., Brice, A., Stevanin, G., Durr, A., Spatax network :
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies Brain, 2017 ; 40 (6) : 1579-1594
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies Brain, 2017 ; 40 (6) : 1579-1594
Pimentel, M. R., Falcone, S., Cadot, B., Gomes, E. R. :
In Vitro Differentiation of Mature Myofibers for Live Imaging J Vis Exp, 2017 ; 119 : e55141
In Vitro Differentiation of Mature Myofibers for Live Imaging J Vis Exp, 2017 ; 119 : e55141
Seror, P., Stojkovic, T., Lefevre-Colau, M. M., Lenglet, T. :
Diagnosis of unilateral trapezius muscle palsy: 54 cases Muscle Nerve, 2017 ; 56 (2) : 215-223
Diagnosis of unilateral trapezius muscle palsy: 54 cases Muscle Nerve, 2017 ; 56 (2) : 215-223
Bourdenet, G., Dubourg, B., Nicol, L., Mulder, P., Martinet, J., Allenbach, Y., Boitard, C., Boyer, O. :
Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis Neuropathol Appl Neurobiol, 2017 ; (SP) :
Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis Neuropathol Appl Neurobiol, 2017 ; (SP) :
Decostre, V., Laforet, P., De Antonio, M., Kachetel, K., Canal, A., Ollivier, G., Nadaj-Pakleza, A., Petit, F. M., Wahbi, K., Fayssoil, A., Eymard, B., Behin, A., Labrune, P., Hogrel, J. Y. :
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa Mol Genet Metab, 2017 ; (SP) :
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa Mol Genet Metab, 2017 ; (SP) :
Bowerman, M., Salsac, C., Bernard, V., Soulard, C., Dionne, A., Coque, E., Benlefki, S., Hince, P., Dion, P. A., Butler-Browne, G., Camu, W., Bouchard, J. P., Delpire, E., Rouleau, G. A., Raoul, C., Scamps, F. :
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects Neurobiol Dis, 2017 ; 106 : 35-48
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects Neurobiol Dis, 2017 ; 106 : 35-48
Wu, W., Chordia, M. D., Hart, B. P., Kumarasinghe, E. S., Ji, M. K., Bhargava, A., Lawlor, M. W., Shin, J. Y., Sera, F., Homma, S., Muchir, A., Khire, U. R., Worman, H. J. :
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation Bioorg Med Chem, 2017 ; 25 (3) : 1004-1013
Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation Bioorg Med Chem, 2017 ; 25 (3) : 1004-1013
Reijnierse, E. M., de Jong, N., Trappenburg, M. C., Blauw, G. J., Butler-Browne, G., Gapeyeva, H., Hogrel, J. Y., McPhee, J. S., Narici, M. V., Sipila, S., Stenroth, L., van Lummel, R. C., Pijnappels, M., Meskers, C. G., Maier, A. B. :
Assessment of maximal handgrip strength: how many attempts are needed? J Cachexia Sarcopenia Muscle, 2017 ; 8 (3) : 466-474
Assessment of maximal handgrip strength: how many attempts are needed? J Cachexia Sarcopenia Muscle, 2017 ; 8 (3) : 466-474
